{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:44:04Z","timestamp":1764171844509},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,5,9]],"date-time":"2006-05-09T00:00:00Z","timestamp":1147132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 4\u2010year\u2010old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post\u2010natal high\u2010resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1463","type":"journal-article","created":{"date-parts":[[2006,5,9]],"date-time":"2006-05-09T10:24:06Z","timestamp":1147170246000},"page":"571-576","source":"Crossref","is-referenced-by-count":12,"title":["Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis"],"prefix":"10.1002","volume":"26","author":[{"given":"Paolo","family":"Prontera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Buldrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Aiello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Gruppioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Bonfatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Venti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Sensi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Calzolari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Donti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960315)62:2<109::AID-AJMG2>3.0.CO;2-R"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218261"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.2.146"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330105"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.936"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000056979"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460613"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199901)19:1<29::AID-PD462>3.0.CO;2-B"},{"issue":"2","key":"e_1_2_1_10_1","first-page":"129","article-title":"A specific phenotype associated with trisomy 15 mosaicism","volume":"36","author":"Fryns JP","year":"1993","journal-title":"Ann Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO;2-H"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000134478.87995.4b"},{"issue":"1","key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000484724","article-title":"Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres","volume":"5","author":"Knight SJ","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-999337"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120617"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1757"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/8.5.502"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<363::AID-AJMG11>3.0.CO;2-Q"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960122)61:3<269::AID-AJMG12>3.0.CO;2-R"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<215::AID-AJMG11>3.0.CO;2-K"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580603.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1093"},{"key":"e_1_2_1_23_1","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_1_24_1","first-page":"A71","article-title":"Recognition of congenital heart disease as a component of a distinct Prader\u2010Willi syndrome infant phenotype due to a combination of mosaic trisomy 15 with maternal uniparental disomy 15","volume":"65","author":"Shapiro LR","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_1","first-page":"51","volume-title":"Spontaneous Abortion","author":"Simpson JL","year":"1987"},{"issue":"4","key":"e_1_2_1_26_1","article-title":"Trisomy 15 in a mosaic, doubly aneuploid two year old","volume":"45","author":"Stallard R","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_27_1","volume-title":"Human Chromosomes Principles and Techniques","author":"Verna RS","year":"1995"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02698.x"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1463","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T21:12:32Z","timestamp":1696713152000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,9]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1002\/pd.1463"],"URL":"https:\/\/doi.org\/10.1002\/pd.1463","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,9]]}}}